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Journal of Human Genetics|February 4, 2012
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like featuresYuriko Yoneda, Hirotomo Saitsu, Mayumi Touyama, et al.Laboratory Investigation; a Journal of Technical Methods and Pathology|April 11, 2023
Primary Cilia Are Frequently Present in Small Cell Lung Carcinomas but Not in Non-Small Cell Lung Carcinomas or Lung CarcinoidsKazuya Shinmura, Hisami Kato, Hideya Kawasaki, et al.Glia|May 9, 2025
Myelin Formation by Oligodendrocytes Is Enhanced Through Laminin-411 and Its Derived PeptideBinri Sasaki, Momo Oishi, Tomoka Aoki, et al.Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.JCI Insight|March 22, 2021
Laminin β2 variants associated with isolated nephropathy that impact matrix regulationYamato Kikkawa, Taeko Hashimoto, Keiichi Takizawa, et al.American Journal of Human Genetics|November 1, 2011
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathyHirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, et al.Acta Pharmaceutica Sinica. B|June 1, 2022
Crosstalk between CYP2E1 and PPAR<i>α</i> substrates and agonists modulate adipose browning and obesityYoubo Zhang, Tingting Yan, Tianxia Wang, et al.Journal of Human Genetics|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.Journal of Controlled Release : Official Journal of the Controlled Release Society|October 20, 2020
Alpha-dystroglycan binding peptide A2G80-modified stealth liposomes as a muscle-targeting carrier for Duchenne muscular dystrophyEri Sasaki, Yoshihiro Hayashi, Yuka Kimura, et al.Clinical Genetics|December 28, 2022
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variantsYuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, et al.Pageof 10